Summary:
Number of Variants: 380
Number of Genes: 93
Number of Genes at OMIM: 14

Among the 14 candidate genes, there is the gene “HEXA” already known to be associated with “GM2-gangliosidosis, several forms, 272800 (3), Tay-Sachs disease, 272800 (3) and [Hex A pseudodeficiency], 272800 (3)”.

Here it’s is important to have some clinical skills to select the best candidate gene according to the phenotype and symptoms of each medical genetics case.

This gene contains two candidate variants.

The first heterozygous variant found (rs121907962) at 15-72647903 has a STOP_GAINED effect and a HIGH impact.

The second heterozygous variant found (rs28941770) at 15-72645446 has a NON_SYNONYMOUS_CODING effect and a MODERATE impact.